The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Ch
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RESEARCH ARTICLE
Open Access
The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study Hui Yang1, Xindie Zhou1, Dongmei Xu1* and Gang Chen2*
Abstract Background: This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population. Methods: We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism. Results: We found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients. Conclusion: These data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals. Keywords: IL-6, Osteoarthritis, Case-control study
Background Osteoarthritis (OA) is representative joint disease associated with damage to the synovial joint structure and function [1] and worldwide is estimated to affect 10% of men and 18% of women who are 60 years and older [2]. Clinically, OA most frequently affects the knee joint [3] * Correspondence: [email protected]; [email protected] 1 Department of Orthopedics, The Affiliated Changzhou No.2 People’s Hospital of Nanjing Medical University, Changzhou 213000, China 2 Department of Orthopedic Surgery, The Second Affiliated Hospital of Jiaxing University, Jiaxing 314000, China
and its occurrence is influenced by obesity, smoking, joint damage, heredity, and inflammation [4]. It is a multifactorial disease with an important genetic component [5]. In the last decade, genome-wide association studies have discovered many new genetic risk factors for OA [5]. IL-6 is a four-helix cytokine containing 184 amino acids, secreted by many cell types in response to infection, cancer, and inflammation [6]. It can effectively regulate B and T cell responses and coordinate activities of both the innate and adaptive immune systems [7]. IL-
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution a
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